Autor: David R. Blair, Neil Risch
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Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks
Loss-of-function variants in genes linked to haploinsufficient Mendelian diseases have unexpectedly low rates of phenotypic expression in population-scale biobanks. Using statistical modeling and machine learning, we demonstrate that many of these vari…